Stargardt's disease is a form of juvenile hereditary macular degeneration characterized by discrete yellowish round or pisciform flecks around the macula at the level of the retinal pigment epithelium (rpe). Stargardt's disease is the most common hereditary macular dystrophy. Prevalence is estimated between 1 in 8,000 and 1 in 10,000. Disease onset occurs typically in the first or second decade of life and manifests as decreased visual acuity. In the early stages, the macula usually shows discrete rpe changes, followed later by an horizontal ovoid zone of beaten bronze atrophy. In final stages, the macula can be associated with central areolar choroidal dystrophy. Fluorescein angiography reveals the characteristic dark choroid (''silence choroidien''), which probably results from the accumulation of lipofuscin in the rpe. This disease has usually an autosomal recessive inheritance pattern but some dominant pedigrees have been reported. The autosomal type has been associated with mutations in the ABCR gene, which encodes a transmembrane transporter protein expressed by the rod outer segments. There is currently no treatment available for Stargardt's disease.
Last update: January 2003